Adult B-cell acute lymphoblastic leukemia (B-ALL) is characterized by genetic heterogeneity and a high relapse rate, affecting over 40% of adults. However, the mechanisms leading to relapse in adults are poorly understood. Forty-four adult B-ALL patients were studied at both diagnosis and relapse by next-generation sequencing (NGS).
View Article and Find Full Text PDFTransitions from one EHR to another can be enormously disruptive to care. Nurses are the largest group of EHR users, but nurse experiences with EHR transitions have not been well documented. We sought to understand nurse experiences with an EHR transition at the US Department of Veterans Affairs.
View Article and Find Full Text PDFBackground: Irritability is a transdiagnostic risk factor for psychopathology and interpersonal problems in youth. However, there is little research on the role of life stress in irritability. The association between stress and irritability may be bidirectional, with irritability leading to stress exposure and stress aggravating irritability.
View Article and Find Full Text PDFAn amplicon-based targeted next-generation sequencing (NGS) assay for the detection of gene fusions in sarcomas was developed, validated, and implemented. This assay can detect fusions in targeted regions of 138 genes and BCOR internal tandem duplications. This study reviews our experience with testing on the first 652 patients analyzed.
View Article and Find Full Text PDFJ Am Med Inform Assoc
January 2025
To report a case of macular hole (MH)-associated retinal detachment (RD) with Straatsma syndrome. A clinical case was retrospectively reviewed. A 39-year-old woman with Straatsma syndrome was treated for an MH-associated RD.
View Article and Find Full Text PDFThe American crocodile (, Cuvier, 1807) (Class Reptilia, Family Crocodylidae) is a crocodile species inhabiting the Neotropics. Congenital defects have been described in almost every vertebrate group. In crocodiles, teratology alterations have been described in captive animals (pets, zoos, farms) such as or .
View Article and Find Full Text PDFInsulin-like growth factor-I (IGF-I) plays a key role in the modulation of synaptic plasticity and is an essential factor in learning and memory processes. However, during aging, IGF-I levels are decreased, and the effect of this decrease in the induction of synaptic plasticity remains unknown. Here we show that the induction of N-methyl-D-aspartate receptor (NMDAR)-dependent long-term potentiation (LTP) at layer 2/3 pyramidal neurons (PNs) of the mouse barrel cortex is favored or prevented by IGF-I (10 nM) or IGF-I (7 nM), respectively, when IGF-I is applied 1 h before the induction of Hebbian LTP.
View Article and Find Full Text PDFEfforts to minimize narcotic usage following inflatable penile prosthesis (IPP) implantation are vital, considering the current opioid epidemic in the United States. We aimed to determine whether pudendal nerve block (PNB) utilization in a multiethnic population undergoing primary IPP implantation can decrease rates of post-operative opiate usage. A single-institution, retrospective study was conducted on patients who underwent primary IPP implantation between December 2015 and June 2022.
View Article and Find Full Text PDFFew post-graduate training programs offer a comprehensive curriculum that includes structured clinical experiences to teach interprofessional care. To address this need, the United States Department of Veterans Affairs, Office of Academic Affiliations funded the Centers of Excellence in Primary Care Education (CoEPCE) from 2011-2019 to provide interprofessional curricula for health profession trainees (HPTs), including physician residents, nurse practitioner residents, pharmacy residents, and psychology residents. We examined changes over time in curricular domains, system impacts, and program practices based on HPT survey data and the qualitative evaluation of narrative feedback.
View Article and Find Full Text PDFMuscle weakness has been associated to insulin resistance and metabolic syndrome in the general population. However, it is still unclear whether this association is maintained in older adults. This study investigated correlations between low handgrip strength (HGS) and metabolic syndrome, or some of its components, in older adults through a systematic review of the literature.
View Article and Find Full Text PDFSickle cell disease (SCD) arises from beta-globin gene mutations, with global estimates indicating around 500 000 affected neonates in 2021. In the United States, it is considered rare, impacting fewer than 200 000 individuals. The key pathogenic flaw lies in mutant haemoglobin S, prone to polymerization under low oxygen conditions, causing erythrocytes to adopt a sickled shape.
View Article and Find Full Text PDFIntroduction: The Mitf has been shown to regulate B cell activation and tolerance. However, the underlying B cell-specific mechanisms responsible, and those that distinguish Mitf from closely related Mitf/TFE (MiT) transcription factors Tfe3, Tfeb, and Tfec, remain obscure.
Methods: Two complementary mouse models of Mitf and MiT deficiency were used: the Mitf systemic loss-of-function mutation, and B-cell specific MiT family inactivation via transgenic expression of a trans-dominant negative (TDN) protein (TDN-B).
Objectives: Identify existing research on impacts of transitions between electronic health record (EHR) systems on patients' healthcare experiences.
Methods: Scoping review. We searched MedLine, OVID, Embase, CINAHL, and PsycInfo databases for articles on patient experiences with EHR-to-EHR transitions.
Background: Erythropoiesis stimulating agents (ESAs) are the first-line therapy in patients with lower-risk myelodysplastic syndromes (LR-MDS). Some predictive factors for ESAs response have been identified. Type and number of somatic mutations have been associated with prognosis and response to therapies in MDS patients.
View Article and Find Full Text PDFBackground: A lack of standardization is pervasive in procedural application and reporting templates for TURBT with the use of a surgical checklist proposed as a means for quality improvement.
Objective: To introduce a TURBT checklist to assess surgeon prediction accuracy and the impact of standardized documentation on quality of resection and oncologic outcomes.
Methods: Nine critical elements of a high-quality TURBT identified by literature review were incorporated into a prospectively implemented checklist for operative reports.
: Point of Care Ultrasound (POCUS) is an important tool in pediatric emergency medicine. In neonatal intensive care medicine ultrasound is often used to evaluate the brains of sick neonates. In theory, POCUS could be used in the ED in young children to evaluate the brain for abnormal pathology.
View Article and Find Full Text PDFBackground: Methadone is a commonly prescribed opioid amongst cancer patients. It has unique pharmacological properties which can benefit in treating complex pain syndromes and neuropathic pain. However, strict guidelines have been created in a generalized manner for chronic pain and long-term survival patients.
View Article and Find Full Text PDFBackground: The U.S. Department of Veterans Affairs (VA) is undergoing an enterprise-wide transition from a homegrown electronic health record (EHR) system to a commercial off-the-shelf product.
View Article and Find Full Text PDFMitochondrial disorders can present with a wide range of clinical and biochemical phenotypes. Mitochondrial DNA variants may be influenced by factors such as degree of heteroplasmy and tissue distribution. We present a four-generation family in which 10 individuals carry a pathogenic mitochondrial variant (m.
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